Incidental Mutation 'R4079:Ankfy1'
| ID |
316767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
040976-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
C to A
at 72580835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021148]
[ENSMUST00000127610]
[ENSMUST00000138247]
[ENSMUST00000155998]
|
| AlphaFold |
Q810B6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021148
|
| SMART Domains |
Protein: ENSMUSP00000021148
Gene: ENSMUSG00000020794
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
8 |
166 |
2.54e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127610
|
| SMART Domains |
Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBCc
|
4 |
33 |
3e-8 |
BLAST |
|
BTB
|
68 |
162 |
3.26e-20 |
SMART |
|
Blast:ANK
|
217 |
247 |
6e-8 |
BLAST |
|
ANK
|
255 |
284 |
5.29e0 |
SMART |
|
ANK
|
288 |
317 |
1.04e2 |
SMART |
|
ANK
|
322 |
362 |
4.3e0 |
SMART |
|
ANK
|
366 |
395 |
4.73e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138247
|
| SMART Domains |
Protein: ENSMUSP00000117588
Gene: ENSMUSG00000020794
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
1 |
95 |
6.89e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155998
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
45 |
N/A |
INTRINSIC |
|
BTB
|
68 |
162 |
3.26e-20 |
SMART |
|
ANK
|
255 |
284 |
5.29e0 |
SMART |
|
ANK
|
288 |
317 |
1.04e2 |
SMART |
|
ANK
|
322 |
362 |
4.3e0 |
SMART |
|
ANK
|
366 |
396 |
9.75e1 |
SMART |
|
ANK
|
400 |
452 |
8.5e2 |
SMART |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
ANK
|
490 |
519 |
4.56e-4 |
SMART |
|
ANK
|
542 |
572 |
3.18e-3 |
SMART |
|
ANK
|
588 |
617 |
1.72e1 |
SMART |
|
ANK
|
621 |
650 |
5.16e-3 |
SMART |
|
ANK
|
654 |
683 |
8.14e-1 |
SMART |
|
ANK
|
687 |
716 |
5.37e-1 |
SMART |
|
ANK
|
724 |
753 |
3.08e-1 |
SMART |
|
ANK
|
769 |
798 |
2.56e-7 |
SMART |
|
ANK
|
802 |
830 |
1.93e-2 |
SMART |
|
ANK
|
836 |
865 |
3.47e2 |
SMART |
|
ANK
|
870 |
899 |
9.49e-2 |
SMART |
|
ANK
|
905 |
934 |
2.41e-3 |
SMART |
|
ANK
|
938 |
967 |
1.34e-1 |
SMART |
|
ANK
|
971 |
1001 |
4.43e-2 |
SMART |
|
Blast:ANK
|
1005 |
1039 |
2e-16 |
BLAST |
|
ANK
|
1043 |
1074 |
5.67e0 |
SMART |
|
FYVE
|
1099 |
1165 |
3.98e-28 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality with no apparent neural developmental defects on a mixed genetic background but show complete embryonic lethality on highly homogenous genetic backgrounds. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
C |
G |
4: 126,247,473 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
T |
A |
3: 103,720,694 (GRCm39) |
N121K |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
| Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
| Armc9 |
A |
T |
1: 86,140,851 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
T |
C |
7: 81,623,508 (GRCm39) |
E573G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,374,434 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,630,110 (GRCm39) |
V19D |
probably damaging |
Het |
| Cfap57 |
C |
A |
4: 118,456,194 (GRCm39) |
S500I |
probably benign |
Het |
| Cnga3 |
A |
T |
1: 37,280,946 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,661,226 (GRCm39) |
D89G |
probably benign |
Het |
| Cox16 |
A |
T |
12: 81,521,109 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,791 (GRCm39) |
N50S |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,636 (GRCm39) |
E1116D |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
| F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
| Fcer1a |
C |
T |
1: 173,052,920 (GRCm39) |
C36Y |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,892,120 (GRCm39) |
V318A |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 144,942,737 (GRCm39) |
I83T |
possibly damaging |
Het |
| Llgl1 |
C |
A |
11: 60,601,110 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mfn1 |
T |
G |
3: 32,596,998 (GRCm39) |
L152W |
probably damaging |
Het |
| Mog |
A |
G |
17: 37,323,302 (GRCm39) |
F212S |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,634 (GRCm39) |
N364S |
probably damaging |
Het |
| Mtmr3 |
C |
T |
11: 4,441,057 (GRCm39) |
R531Q |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,357,236 (GRCm39) |
N443S |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,806,123 (GRCm39) |
Y323H |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,853,228 (GRCm39) |
H107Q |
probably damaging |
Het |
| Or8u10 |
A |
G |
2: 85,915,656 (GRCm39) |
V155A |
possibly damaging |
Het |
| Patl1 |
C |
T |
19: 11,908,994 (GRCm39) |
A467V |
probably damaging |
Het |
| Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
| Phax |
A |
G |
18: 56,709,051 (GRCm39) |
N183S |
possibly damaging |
Het |
| Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
| Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,526,021 (GRCm39) |
|
probably null |
Het |
| Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
| Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,510 (GRCm39) |
S693P |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,085,934 (GRCm39) |
Q320* |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,042,543 (GRCm39) |
N733I |
possibly damaging |
Het |
| Snap47 |
C |
T |
11: 59,319,377 (GRCm39) |
V254I |
probably benign |
Het |
| Speer4e2 |
A |
T |
5: 15,027,663 (GRCm39) |
L71Q |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,572,724 (GRCm39) |
L244Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 74,034,467 (GRCm39) |
R192C |
probably damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,667,537 (GRCm39) |
L3P |
possibly damaging |
Het |
| Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
A |
11: 84,930,055 (GRCm39) |
Y574F |
probably damaging |
Het |
|
| Other mutations in Ankfy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Ankfy1
|
APN |
11 |
72,619,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00837:Ankfy1
|
APN |
11 |
72,646,724 (GRCm39) |
splice site |
probably benign |
|
|
IGL01061:Ankfy1
|
APN |
11 |
72,619,686 (GRCm39) |
nonsense |
probably null |
|
|
IGL01305:Ankfy1
|
APN |
11 |
72,655,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Ankfy1
|
APN |
11 |
72,629,191 (GRCm39) |
missense |
probably benign |
|
|
IGL01918:Ankfy1
|
APN |
11 |
72,631,281 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03007:Ankfy1
|
APN |
11 |
72,641,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03134:Ankfy1
|
APN |
11 |
72,603,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Ankfy1
|
APN |
11 |
72,619,580 (GRCm39) |
splice site |
probably benign |
|
|
Betruenken
|
UTSW |
11 |
72,644,434 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Inebriated
|
UTSW |
11 |
72,642,931 (GRCm39) |
missense |
probably benign |
|
|
Smashed
|
UTSW |
11 |
72,603,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
woozy
|
UTSW |
11 |
72,645,285 (GRCm39) |
missense |
probably benign |
0.33 |
|
ANU22:Ankfy1
|
UTSW |
11 |
72,655,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2289:Ankfy1
|
UTSW |
11 |
72,621,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0062:Ankfy1
|
UTSW |
11 |
72,603,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Ankfy1
|
UTSW |
11 |
72,603,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Ankfy1
|
UTSW |
11 |
72,644,434 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0787:Ankfy1
|
UTSW |
11 |
72,651,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1303:Ankfy1
|
UTSW |
11 |
72,640,897 (GRCm39) |
splice site |
probably null |
|
|
R1522:Ankfy1
|
UTSW |
11 |
72,646,693 (GRCm39) |
nonsense |
probably null |
|
|
R1552:Ankfy1
|
UTSW |
11 |
72,645,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1565:Ankfy1
|
UTSW |
11 |
72,648,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Ankfy1
|
UTSW |
11 |
72,645,233 (GRCm39) |
nonsense |
probably null |
|
|
R1900:Ankfy1
|
UTSW |
11 |
72,645,233 (GRCm39) |
nonsense |
probably null |
|
|
R1950:Ankfy1
|
UTSW |
11 |
72,651,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Ankfy1
|
UTSW |
11 |
72,646,722 (GRCm39) |
splice site |
probably benign |
|
|
R3429:Ankfy1
|
UTSW |
11 |
72,602,980 (GRCm39) |
splice site |
probably benign |
|
|
R3801:Ankfy1
|
UTSW |
11 |
72,640,246 (GRCm39) |
missense |
probably benign |
|
|
R4119:Ankfy1
|
UTSW |
11 |
72,605,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4120:Ankfy1
|
UTSW |
11 |
72,605,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4165:Ankfy1
|
UTSW |
11 |
72,605,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4233:Ankfy1
|
UTSW |
11 |
72,605,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4234:Ankfy1
|
UTSW |
11 |
72,605,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4236:Ankfy1
|
UTSW |
11 |
72,605,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4735:Ankfy1
|
UTSW |
11 |
72,621,437 (GRCm39) |
missense |
probably benign |
|
|
R4765:Ankfy1
|
UTSW |
11 |
72,603,117 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4904:Ankfy1
|
UTSW |
11 |
72,642,931 (GRCm39) |
missense |
probably benign |
|
|
R5057:Ankfy1
|
UTSW |
11 |
72,650,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Ankfy1
|
UTSW |
11 |
72,637,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5471:Ankfy1
|
UTSW |
11 |
72,619,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5737:Ankfy1
|
UTSW |
11 |
72,623,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5770:Ankfy1
|
UTSW |
11 |
72,651,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Ankfy1
|
UTSW |
11 |
72,650,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5930:Ankfy1
|
UTSW |
11 |
72,603,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5960:Ankfy1
|
UTSW |
11 |
72,648,178 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6169:Ankfy1
|
UTSW |
11 |
72,645,285 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6176:Ankfy1
|
UTSW |
11 |
72,645,285 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6177:Ankfy1
|
UTSW |
11 |
72,645,285 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6178:Ankfy1
|
UTSW |
11 |
72,645,285 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6477:Ankfy1
|
UTSW |
11 |
72,621,308 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6513:Ankfy1
|
UTSW |
11 |
72,621,308 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6521:Ankfy1
|
UTSW |
11 |
72,621,308 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6523:Ankfy1
|
UTSW |
11 |
72,621,308 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6524:Ankfy1
|
UTSW |
11 |
72,621,308 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7006:Ankfy1
|
UTSW |
11 |
72,631,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7329:Ankfy1
|
UTSW |
11 |
72,603,034 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7393:Ankfy1
|
UTSW |
11 |
72,629,134 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7410:Ankfy1
|
UTSW |
11 |
72,652,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Ankfy1
|
UTSW |
11 |
72,650,769 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7731:Ankfy1
|
UTSW |
11 |
72,603,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Ankfy1
|
UTSW |
11 |
72,645,281 (GRCm39) |
nonsense |
probably null |
|
|
R8236:Ankfy1
|
UTSW |
11 |
72,645,181 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8709:Ankfy1
|
UTSW |
11 |
72,646,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8717:Ankfy1
|
UTSW |
11 |
72,621,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8839:Ankfy1
|
UTSW |
11 |
72,621,392 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8862:Ankfy1
|
UTSW |
11 |
72,644,469 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8954:Ankfy1
|
UTSW |
11 |
72,641,317 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9548:Ankfy1
|
UTSW |
11 |
72,641,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9762:Ankfy1
|
UTSW |
11 |
72,621,401 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCAGAATAGTCCATGTTTGC -3'
(R):5'- CCCGAAACGCTACATAGGAAGG -3'
Sequencing Primer
(F):5'- CTGGAGTACGAGATAGCCCAGTC -3'
(R):5'- ACGCTACATAGGAAGGCTCGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation